O que acontece quando você descobre que é BRCA positivo?

Around 72% of women with a BRCA1 mutation, and 69% of women with a BRCA2 mutation, will develop breast cancer by the age of 80, compared to 12% of the general population. They are also more susceptible to câncer de ovário. In men, the same faulty genes can lead to an increased risk of male breast cancer e câncer de próstata.

Following Jolie's disclosure, there was an uptick in women seeking genetic testing. Although only a small proportion of breast cancer patients harbour a faulty BRCA gene, the mutation can have serious consequences for affected families.

This means, for many women with a family history of breast cancer, genetic testing can serve an important purpose. Either it will assuage their concerns - or it will inform their choices about what to do next.

"If you have a family history of breast cancer, the first step is to go to the GP and say you're concerned, and if you fit the criteria the GP will refer you to a family history clinic or a specialist genetics centre," says Carolyn Rogers, clinical nurse specialist at Breast Cancer Care. "Some people choose not to get tested, despite their family history - it's an individual decision."

Here, it's important not to panic - with breast cancer affecting 1 in 8 women in a lifetime, many people will have a family history of cancer but have no genetic risk. But it's equally important not to ignore.

The options if you test positive

For Gemma from East Lothian, getting tested felt like the obvious thing to do. Her mum, who had been through breast cancer twice, had tested positive for the mutation, which meant there was a 50% chance that Gemma would also be affected. Unfortunately, at just 20 years old, she found out that she too carried the faulty gene.

"I had several counselling appointments before I got the blood test, and then I had to wait a month or so for the results," she says. "When I heard I'd tested positive, I was really emotional but still confused about what it actually meant or what I was supposed to do. It was a very surreal thing to go through - I was bombarded with all these different things I'd have to consider."

As Rogers explains, women who test positive would generally be offered three choices.

"They could think about whether they want to have the risk-reducing surgery, or whether they want to undergo frequent surveillance screenings, or whether to take particular drugs that may minimise their risk of developing an invasive breast cancer," she says.

While the risk-reducing surgery doesn't eliminate the risk of cancer altogether, it does dramatically reduce the odds. When Angelina Jolie had her mastectomy, it was reported that her risk of developing breast cancer had fallen from 87% to 5%.

"If people opt for the risk-reduction surgery, that would mean talking to a counsellor and surgeon about what's the best kind of surgery for them," says Rogers. "Some people also opt to have their ovaries and Fallopian tubes removed, but that depends on how old they are, whether they have or want to have children, and whether they understand the side effects, because it will put you into immediate menopausa."

For women who don’t want surgery, it may simply be a question of having more frequent mammograms or MRI screenings, which should enable early detection of any cancers. Others opt to take drugs like tamoxifeno, which have some protective effects, and still others do nothing at all. There are many factors to bear in mind, and what's right for one person may not be right for the next.

"This is a very complex area of healthcare, and even though it only affects a small proportion of people, it's hugely emotionally challenging and fraught with difficulty," says Rogers. "But over the last 10-15 years the information that's around to help people make decisions has really improved, and so has our knowledge of the psychological implications."

Encontrando apoio

Ultimately, Gemma had a double mastectomy and reconstruction in 2016, when she was 23. (While this course of action wouldn't generally be recommended to women under 25, her surgeon and psychologist were satisfied she had the necessary maturity.)

"I'd found a lump in my breast, and while it turned out to be just a cyst, I thought I can't ever put myself through that kind of fear again," she says. "That's where I started the ball rolling to have the mastectomy."

Although her surgery went well, it took her around 18 months to feel completely physically normal again, and emotionally she still has her ups and downs.

"To begin with, I thought there's no way I'll be able to look in the mirror again - it's going to look awful - but I've grown to just accept this is what I have now," she says. "When I get emotional I have to take a step back and think, well what was the alternative, because my mum had cancer on two occasions and she went through so much worse."

While Gemma was relatively isolated during her own BRCA experience, talking only to her mum and other close family members, she now volunteers for Breast Cancer Care and Breast Cancer Now’s Someone Like Me service. The service matches volunteers like Gemma with people who are seeking support.

"When I was going through it, I had all these questions like, what kind of bra will I need to wear, will I ever be able to look normal in a bikini again, and these aren't really questions you can ask your surgeon or genetic counsellor," she says. "People don't really get it unless they've been through it, so when I can talk about my experience with someone else, it's like we support each other."

More than three years since her mastectomy, Gemma is doing well, and is proud of how far she's come at such a young age.

"For other women in my position, the most important thing is that you have to take your time," she says. "You have to make sure you’ve considered everything before you jump in and make a decision. And you also have to talk about it. Until you're in this position, you don't realise how many other people are going through this - the help is out there, it can just be difficult to find."